Last reviewed: 30 Oct 2021
Last updated: 13 Mar 2019
Summary
Definition
History and exam
Key diagnostic factors
- positive family history of EB
- mechanical fragility of the skin
- recurrent blisters and erosions
- poorly healing wounds
- onset of cutaneous signs at birth or early infancy
- resolution of blistering within the first 1-2 years of life
- generalized or localized distribution of skin involvement
- combination of milia, scarring, and dystrophic nails
- absence of milia, scarring, and dystrophic nails
- exuberant granulation tissue
- herpetiform blistering
- pseudosyndactyly
- enamel hypoplasia
- reticulate hyperpigmentation
- muscular dystrophy
- tracheolaryngeal stenosis or stricture
- severe upper airway disease
- onset in mid or late childhood
- inverse (intertriginous), acral, or centripetal distribution of skin involvement
- severe cardiomyopathy
Diagnostic investigations
1st investigations to order
- immunofluorescence antigenic mapping
- transmission electron microscopy
Treatment algorithm
Contributors
Authors
Jo-David Fine, MD, MPH, FRCP
Professor of Dermatology and Pediatrics
Vanderbilt University School of Medicine
Head
National Epidermolysis Bullosa Registry
Nashville
TN
Disclosures
J-DF is an author of a number of references cited in this topic.
Peer reviewers
Helmut Hintner, MD
Professor and Chair
Department of Dermatology
Paracelsus Private Medical School
Salzburg
Austria
Disclosures
HH is an author of a reference cited in this topic.
Nanette Silverberg, MD
Clinical Professor of Dermatology
Columbia University College of Physicians and Surgeons
New York City
NY
Disclosures
NS declares that she has no competing interests.
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